Abstract

BackgroundPrevalence rates of all anomalies classified as birth defects, including those identified before the 22nd gestational week, are limited in published reports, including those from the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). In our birth cohort study, we collected the data for all birth defects after 12 weeks of gestation.MethodsSubjects in this study comprised 19,244 pregnant women who visited one of 37 associated hospitals in the Hokkaido Prefecture from 2003 through 2012, and completed follow-up. All birth defects after 12 weeks of gestation, including 55 marker anomalies associated with environmental chemical exposures, were recorded. We examined parental risk factors for birth defects and the association between birth defects and risk of growth retardation.ResultsPrevalence of all birth defects was 18.9/1,000 births. The proportion of patients with birth defects delivered between 12 and 21 weeks of gestation was approximately one-tenth of all patients with birth defects. Among those with congenital malformation of the nerve system, 39% were delivered before 22 weeks of gestation. All patients with anencephaly and encephalocele were delivered before 22 weeks of gestation. We observed different patterns of parental risk factors between birth defect cases included in ISBDSR and cases not included. Cases included in ISBDSR were associated with an increased risk of preterm birth. Cases not included in ISBDSR were associated with an increased risk of being small for gestational age at term.ConclusionsData from our study complemented the data from ICBDSR. We recommend that birth defects not included in ICBDSR also be analyzed to elucidate the etiology of birth defects.

Highlights

  • Birth defects, including malformations, deformations, and chromosomal abnormalities, are major causes of neonatal mortality.[1,2] Previously, it was believed that most birth defects were idiopathic

  • To investigate and prevent birth defects, surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) are underway.[3,4]

  • Data regarding the prevalence of all birth defects, and cases observed before 22 weeks of gestation, could be captured via prospective cohort studies of pregnant women

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Summary

Introduction

Birth defects, including malformations, deformations, and chromosomal abnormalities, are major causes of neonatal mortality.[1,2] Previously, it was believed that most birth defects were idiopathic. The Japan Association of Obstetricians and Gynaecologists (JAOG) reports observed birth defect cases via the nationwide hospital-based monitoring program to the ICBDSR. Mortality cases before 22 weeks of gestation have not been reported.[3] Data regarding the prevalence of all birth defects, and cases observed before 22 weeks of gestation, could be captured via prospective cohort studies of pregnant women. Prevalence rates of all anomalies classified as birth defects, including those identified before the 22nd gestational week, are limited in published reports, including those from the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). In our birth cohort study, we collected the data for all birth defects after 12 weeks of gestation

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